Benign adult familial myoclonic epilepsy - Genetic heterogeneity and allelism with ADCME

被引:60
|
作者
de Falco, FA
Striano, P
de Falco, A
Striano, S
Santangelo, R
Perretti, A
Balbi, P
Cecconi, M
Zara, F
机构
[1] Loreto Nuovo Hosp, Dept Neurol, Naples, Italy
[2] Univ Naples Federico II, Dept Neurol Sci, Serv Neurophysiopathol, Naples, Italy
[3] Univ Naples Federico II, Epilepsy Ctr, Naples, Italy
[4] Galliera Hosp, Lab Human Genet, Genoa, Italy
[5] G Gaslini Inst Children, Operat Unit Neuromuscular Dis, Genoa, Italy
关键词
D O I
10.1212/01.WNL.0000055874.24000.4A
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Benign adult familial myoclonic epilepsy (BAFME) has been mapped to chromosome 8q24; however, genetic heterogeneity has been recently suggested. The authors report a clinical and electrophysiologic study of two Italian BAFME families showing linkage to chromosome 2p11.1-q12.2. Their report supports the evidence of non-Japanese families with BAFME and suggests a possible allelism with the recently described autosomal dominant cortical myoclonus and epilepsy syndrome.
引用
收藏
页码:1381 / 1385
页数:5
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